InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: CYP11B1

Summary

InnateDB Protein

IDBP-478161.4

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

CYP11B1

Protein Name

cytochrome P450, family 11, subfamily B, polypeptide 1

Synonyms

CPN1; CYP11B; FHI; P450C11;

Species

Homo sapiens

Ensembl Protein

ENSP00000428043

InnateDB Gene

IDBG-37905 (CYP11B1)

Protein Structure

UniProt Annotation

Function

Has steroid 11-beta-hydroxylase activity. In addition to this activity, the 18 or 19-hydroxylation of steroids and the aromatization of androstendione to estrone have also been ascribed to cytochrome P450 XIB.

Subcellular Localization

Mitochondrion membrane.

Disease Associations

Adrenal hyperplasia 4 (AH4) [MIM:202010]: A form of congenital adrenal hyperplasia, a common recessive disease due to defective synthesis of cortisol. Congenital adrenal hyperplasia is characterized by androgen excess leading to ambiguous genitalia in affected females, rapid somatic growth during childhood in both sexes with premature closure of the epiphyses and short adult stature. Four clinical types: 'salt wasting' (SW, the most severe type), 'simple virilizing' (SV, less severely affected patients), with normal aldosterone biosynthesis, 'non-classic form' or late- onset (NC or LOAH)and 'cryptic' (asymptomatic). {ECO:0000269PubMed:16046588, ECO:0000269PubMed:2022736, ECO:0000269PubMed:20331679, ECO:0000269PubMed:20947076, ECO:0000269PubMed:9302260}. Note=The disease is caused by mutations affecting the gene represented in this entry.Familial hyperaldosteronism 1 (FH1) [MIM:103900]: A disorder characterized by hypertension, variable hyperaldosteronism, and abnormal adrenal steroid production, including 18-oxocortisol and 18-hydroxycortisol. There is significant phenotypic heterogeneity, and some individuals never develop hypertension. Note=The disease is caused by mutations affecting the gene represented in this entry. The molecular defect causing hyperaldosteronism familial 1 is an anti-Lepore-type fusion of the CYP11B1 and CYP11B2 genes. The hybrid gene has the promoting part of CYP11B1, ACTH-sensitive, and the coding part of CYP11B2.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004507	steroid 11-beta-monooxygenase activity
GO:0005506	iron ion binding
GO:0016705	oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen
GO:0020037	heme binding

Biological Process

GO:0006700	C21-steroid hormone biosynthetic process
GO:0006704	glucocorticoid biosynthetic process
GO:0006705	mineralocorticoid biosynthetic process
GO:0006805	xenobiotic metabolic process
GO:0006955	immune response
GO:0008202	steroid metabolic process
GO:0008217	regulation of blood pressure
GO:0016125	sterol metabolic process
GO:0032342	aldosterone biosynthetic process
GO:0032870	cellular response to hormone stimulus
GO:0034651	cortisol biosynthetic process
GO:0035865	cellular response to potassium ion
GO:0042593	glucose homeostasis
GO:0044281	small molecule metabolic process
GO:0055114	oxidation-reduction process